I’m Ali, 34 and live in Bury, Greater Manchester with my partner Nick, cat Colin and two little bunnies, Lola and Wilf.
Unbeknown to me I have been living with a genetic condition all my life called Ehlers- Danlos Syndrome (EDS). It is a connective tissue disorder in which the bodies collagen is defective. Collagen is principally the glue that holds our bodies together. It is in every part of us; muscles, ligaments. tendons, organs……….everything. Due to the defective collagen patients can present with an array of multi-systemic conditions.
Ehlers-Danlos syndrome can be an invisible condition which can make it hard at times for those around us to fully understand the magnitude of the impact this condition has on our bodies and the limitations it can hold.
My symptoms started aged 11 with what I would now class as mild stomach issues, knee dislocations, joint pains, soft tissue injuries and what I now know to be autonomic dysfunction. Each ailment individually explained away, which at the time was viable. I still lived a very full and enjoyable life but at the same time knowing something wasn’t quite right.
The symptoms became much more problematic aged 20 in terms of severity and frequency. At the age of 23 extensive testing began on my gastrointestinal system and I hopped aboard the diagnosis merry go round for 7 long frustrating years. I endured many invasive tests, hospital stays, procedures and operations. Although things were picked up no firm diagnosis was ever made. I always knew something was wrong. I knew most people couldn’t be living their life in the same amount of pain and anguish. I knew my body was different and didn’t behave in the same way as the majority. I tried my best to hide my symptoms and continued to work and socialise which became increasingly difficult as the years went by and I found it hard to keep up with everyone else. It wasn’t until 2015, aged 31 that I finally received the diagnosis of EDS type 3 now known as hEDS.
The diagnosis brought validation of years of suffering, it all made sense. Immediately I felt lighter, this wasn’t all ‘in my head’. We had fought for years for help, living with a broken body but not knowing why it was broken brought years of anguish, frustration and upset. The ‘light’ feeling was quickly replaced by the realisation that I wasn’t going to be ‘cured’ of my health conditions, this wasn’t easy to digest. My world suddenly felt very small. I felt lost.
No two Ehlers-Danlos patients are the same. For me EDS affects my gastrointestinal system in a large way, my joints often partially or fully dislocate leading to a great amount of pain as the muscles are working in overdrive to steady the joints causing them to become imbalanced, short and tight. I have scoliosis of the thoracic spine, a spinal cyst, disk disease, abnormal patella tracking, shoulder tears, eye problems, fragile skin that easily bruises and tears and bladder problems.
Shortly after my EDS diagnosis I was diagnosed with Postural Orthostatic Tachycardia Syndrome (POTS) which is an abnormality in the functioning of the autonomic nervous system. Essentially everything our bodies should do automatically a person with POTS can have difficulty with. For me I am unable to regulate my body temperature, my body is unable to adjust to gravity and my blood pools in my legs not getting back to my brain in time resulting in palpitations, increased heart rate, fainting, irregular blood pressure, dizziness, tremors, nausea and insomnia.
My health took a rapid decline in 2015 and after an upright MRI scan it was revealed I had Craniocervical instability (CCI). The junction of where my head and spine attach is unstable due to lax ligaments that are not adequate to support the weight of my head. As a result my skull is sliding, the back of my brainstem is compressed as is my spinal cord and on rotation and even in neutral I am subluxing the facet joints. The symptoms this condition presents with are vast and life threatening.
It soon became apparent that fusion surgery was not available in the UK for EDS patients and we were then faced with the daunting prospect of fundraising. My partner set up a fundraising page in October 2016 and the response has been nothing short of breath taking. We originally planned to go to Barcelona for the surgery however there had to be a change of plan (explained in a blog post) quite last minute and the surgery was undertaken In Washington D.C.
The aim of my blog is to document my journey from here on in as I head towards major surgery and thereafter. I would also like to go back in time and write some of my experiences, frustrations, testing leading up to diagnosis and the emotional impact the condition has had on my life. In essence a little bit of past mixed with a little bit of present and a sprinkling of future.
Sadly, there are many others who have suffered for far too many years not knowing what has been wrong with them, fighting the medical system, desperately needing help whilst there body continues to break by the day. Diagnosis on the whole is made far too late in EDS patients and this needs to change.
I hope my blog reaches out to people in the EDS community and possibly help other sufferers who are experiencing similar. My main aim is to speak candidly about the condition, what it is like day to day, testing experiences, things that have helped or hindered me.
Id like my blog to reach out to the wider community and raise awareness of the conditions. Many chronic illnesses sufferers may not have the same physical symptoms however often we share the same emotional roller coaster, i hope reading my journey could help you.
To be able to share our experiences and relate is a very powerful tool in moving forward and expanding what feels at times like a very small and lonely existence.
I really hope you enjoy reading my blog and it can help in some way.
Lots of love and healing hugs,